Silver-russell syndrome 2

Summary

Silver-russell syndrome 2 (MONDO:0030116) is a disease. A subtype of Silver-Russell syndrome — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	silver-russell syndrome 2
Mondo ID	MONDO:0030116
OMIM	618905
UMLS	C5394446
MedGen	1714148
GARD	0025524
Is cancer (heuristic)	no

Also known as: SILVER-RUSSELL SYNDROME 2 · silver-russell syndrome 2 · SRS2 · Uniparental Disomy, Maternal, Chromosome 7

Disease family

This is a subtype of Silver-Russell syndrome. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › syndromic disease › Silver-Russell syndrome › silver-russell syndrome 2

Related subtypes (10): Russell-silver syndrome, X-linked, Silver-Russell syndrome 3, silver-Russell syndrome due to 7p11.2p13 microduplication, silver-Russell syndrome due to an imprinting defect of 11p15, silver-Russell syndrome due to 11p15 microduplication, silver-Russell syndrome due to maternal uniparental disomy of chromosome 11, silver-Russell syndrome due to maternal uniparental disomy of chromosome 7, Silver-Russell syndrome 5, Silver-Russell syndrome 1, silver-russell syndrome 4

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.